Details of Disease

General Information of Disease (ID: DIS8KFBJ)

Disease Name Neurofacioskeletal syndrome with or without renal agenesis
Synonyms Neurodevelopmental Disorder With Corpus Callosum Agenesis, Craniofacial Dysmorphism, and Skeletal Anomalies, With or Without Renal Agenesis; NFSRA
Disease Hierarchy
DISYKSRF: Genetic disease
DIS8KFBJ: Neurofacioskeletal syndrome with or without renal agenesis
Disease Identifiers
MONDO ID
MONDO_0030966
UMLS CUI
C5543070
OMIM ID
619194
MedGen ID
1778926

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HS2ST1 OTHOU8I2 Limited Unknown [1]
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References

1 Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis. Epilepsia. 2015 Mar;56(3):e26-32. doi: 10.1111/epi.12920. Epub 2015 Feb 17.